Paper Spotlight

Trainee Paper Spotlight: Dr. Callie Kwartier

Trainee Author: Dr. Callie Kwartler Postdoctoral Fellow Milewicz Lab – University of Texas Health Science Center at Houston (Photo courtesy Kwartler) Kwartler CS, Gong L, Chen J, Wang S, Kulmacz R, Duan XY, Janda A, Huang J, Kamm KE, Stull JT, Guo D, Milewicz DM. Variants of Unknown Significance in Genes Associated with Heritable Thoracic... Read More

Trainee Paper Spotlight: Taylor Mighell

Trainee Author: Taylor Mighell Graduate Student Oregon Health and Science University, Portland, Oregon (Photo courtesy Mighell) Mighell, T.L., Evans-Dutson, S. and O’Roak, B.J. (2018) A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. The American Journal of Human Genetics 102, 943–955. Mighell et al (2018) present a methodology and framework for... Read More

Trainee Paper Spotlight: Bárbara Domingues Bitarello

Trainee Author: Bárbara Domingues Bitarello, PhD Postdoctoral Researcher, Department of Genetics Perelman School of Medicine, University of Pennsylvania (Photo courtesy Bitarello) Bitarello BD, et al. Signatures of long-term balancing selection in human genomes. Genome Biology and Evolution. 2018 Mar 1;10(3) In this month’s Trainee Paper Spotlight, Bitarello et al. define a simple yet powerful new... Read More

Trainee Paper Spotlight: Arne De Roeck

Trainee Author: Arne De Roeck, M.Sc PhD Student, Neurodegenerative Brain Diseases Group VIB-UAntwerp Center for Molecular Neurology (Photo courtesy De Roeck) De Roeck A, et al. An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease. Acta Neuropathologica. 2018 Mar 27;135(6) This paper underscores the importance of considering non-coding variation while searching... Read More

Trainee Paper Spotlight: Yong Lei

Trainee Author: Yong Lei, PhD Postdoctoral Associate Fellow, Stem Cells & Regenerative Medicine Centre, Baylor College of Medicine (BCM), Houston, Texas (Photo courtesy Lei) Lei, Y. et al. Targeted DNA methylation in vivo using an engineered dCas9-MQ1 fusion protein. Nat. Commun. 8, 16026 doi: 10.1038/ncomms16026 (2017). Yong Lei and colleagues report a new engineered tool... Read More

ASHG uses cookies to provide you with a secure and custom web experience. Privacy Policy